Effect of age, period and birth-cohort on the frequency of glucose-6-phosphate dehydrogenase deficiency in Sardinian adults.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited disorder common in Sardinia. In this study, the frequency variation of G6PD-deficiency across age groups and birth cohorts was investigated using Age-Period-Cohort analysis.Data were collected from the clinical records of 11,252 patients (6975 women, age range 17-94 years) who underwent endoscopy between 2000 and 2016 at a teaching hospital (University of Sassari), Italy. G6PD status was assessed by enzymatic assay based on G6PD/6GPD ratio. A Poisson log-linear regression model was used to identify age and time trend in G6PD deficiency.Enzyme deficiency was detected in 11.4% of the entire cohort (men: 7.9%; women: 13.6%). Age-Period-Cohort analysis showed no inflection points across age groups, especially after age 80. The effects of time period and birth cohorts on G6PD deficiency were negligible (frequencies before and after 1950 were 11.0% and 11.8%, respectively).These findings indicate that the frequency of G6PD deficiency does not vary significantly in oldest subjects. The lack of evidence for selection across the malaria eradication time may be explained by other factors, including somatic cell selection or misclassification of heterozygotes women as G6PD normal in the older birth cohorts. Additional molecular studies may help clarify these issues. Key message The frequency of glucose-6-phosphate dehydrogenase deficiency is stable across age groups and does not vary in generations born before or after malaria eradication

Transfer of a major qtl for resistance to fusarium head blight from Thinopyrum elongatum onto durum wheat 7al chromosome arm and its pyramiding with other useful genes from Th. ponticum

Fusarium Head Blight (FHB), also called scab, a major wheat disease worldwide, has in recent years become a threat also in uncommon cultivation areas of bread and durum wheat. The lack of efficient and durable sources of resistance within adapted durum wheat germplasm is particularly alarming. In fact, durum wheat is used almost exclusively for human consumption, and Fusarium attacks, besides causing severe yield losses, pose a high risk of kernel contamination with health-dangerous mycotoxins, notably deoxynivalenol (DON). To cope with this scenario, looking outside of the primary genepool and exploring exotic variability harboured within related Triticeae species, appears as a worth strategy. We recently mapped an exceptionally effective QTL for FHB resistance (provisional designation Fhb-7EL) onto the telomeric portion of the 7EL chromosome arm of diploid Thinopyrum elongatum, and pyramided it with other useful genes from the 7el1L arm of decaploid Th. ponticum (Lr19, Yp, yield related traits) onto the 7DL arm of bread wheat- Thinopyrum recombinant lines (Ceoloni et al. TAG, in press). Two such FHB resistant recombinants, having distal 70% of their 7DL replaced by chromatin of the two Thinopyrum species in slightly different relative proportions, were crossed with two previously developed durum wheat- Th. ponticum recombinants, having 23% and 28% of their 7AL arm replaced by 7el1L chromatin, respectively. In the shared 7el1L region between the bread wheat (6x) and durum wheat (4x) parental recombinant types, including in all cases the Lr19 gene, homologous pairing evidently occurred with high frequency (over 70%), as proved by GISH-based analysis of meiotic pairing of 5x F1\u2019s. As a result, new 7EL-7el1L recombinant types could be isolated in the BC1 generation to durum wheat. Selection for desired recombinants, i.e. those involving chromosome 7A and with a total Thinopyrum spp. (7EL+7el1L) chromatin not exceeding the 28% of the arm, was carried out by a panel of user-friendly PCR-based markers. To accelerate reduction of chromosome number to the euploid 2n=28, in vitro culture of BC2 embryos was carried out. Selected heterozygous recombinant plants, most of them having reached a stable chromosomal condition, were selfed and in the BC2F2 progeny homozygous genotypes were isolated. The latter were challenged by Fusarium graminearum spike inoculation, to verify the efficacy of the Fhb-7EL QTL once inserted into a durum wheat background. Compared to highly susceptible control plants, inoculation outcomes confirmed what previously observed at the bread wheat level, with remarkable reduction of disease severity, averaging over 90%, invariably associated with presence of the Fhb-7EL QTL. Thus, what is considered to be by far the most effective resistance to FHB available, is now readily exploitable in breeding to provide protection against this threatening disease, hence substantially enhancing food security and safety of the bread and durum wheat crop, in Italy and worldwide

Durum wheat-Thinopyrum ponticum recombinant lines: a tool to finely describe homoeologous 7L arm regions.

As one important result of wheat chromosome engineering, creation of arrays of wheat-alien recombinant chromosomes allows assignment of markers and genes to defined physical locations, hence improving knowledge of structural-functional organization of wheat and alien chromosomal regions and to identify suitable markers for MAS of target genes. Regions involved in our research are the distal portions of wheat 7AL and Thinopyrum ponticum (tall wheatgrass, a wild wheat relative) 7AgL arms, the latter containing several genes of value for wheat improvement

EQUIPPING DURUM WHEAT WITH A MAJOR QTL FOR RESISTANCE TO FUSARIUM DISEASES TRANSFERRED FROM THINOPYRUM ELONGATUM AND ITS PYRAMIDING WITH VALUABLE GENES FROM TH. PONTICUM

Favoured by climate changes, Fusarium head blight (FHB), a devastati ng disease of small-grain cereals worldwide, is increasingly spreading also in unusual environments where bread wheat (BW) and durum wheat (DW) are largely culti vated. The scarcity of effi cient resistance sources within adapted germplasm is parti cularly alarming for DW, mainly uti lized for human consumpti on, hence at high risk of kernel contaminati on with health-dangerous mycotoxins. To cope with this scenario, we looked outside the wheat primary genepool and recently transferred an excepti onally eff ecti ve FHB resistance QTL (Fhb-7EL) from the 7EL chromosome arm of the wheatgrass Thinopyrum elongatum onto 7DL of BW recombinant lines. The latt er already possessed valuable genes (Lr19, Yp, yield-related QTL) from a Th. ponti cum 7el1L arm segment, distally inserted onto 7DL. BW lines with the 7el1L+7EL assembly were crossed with previously developed DW-Th. ponti cum recombinants, having small 7el1L distal segments on 7AL arms. As proved by GISH analysis, homologous pairing occurred with high frequency in the shared 7el1L region between the BW and DW recombinant chromosomes. As a result, desirable 7EL+7el1L recombinant types with 2n = 28 were isolated in the BC1 progeny to DW, aided by PCR-based markers. Homozygous recombinant plants selected in the BC2F2 progeny were challenged by Fusarium graminearum spike inoculati on to verify the Fhb-7EL QTL effi cacy into the DW background. Infecti on outcomes confi rmed what previously observed in BW, with around 90% reducti on of disease severity vs. suscepti ble controls, invariably associated with presence of the Fhb-7EL QTL. Moreover, as for the BW types, the same Fhb-7EL was found to provide the novel DW recombinants also with resistance to the crown rot disease, as from seedling infecti on with F. culmorum. Through alien segment pyramiding we succeeded in equipping DW with a very eff ecti ve barrier against diff erent Fusarium diseases and other positi ve att ributes contributi ng to yield security and safety

Low in‑hospital mortality rate in patients with COVID‑19 receiving thromboprophylaxis: data from the multicentre observational START‑COVID Register

Abstract COVID-19 infection causes respiratory pathology with severe interstitial pneumonia and extra-pulmonary complications; in particular, it may predispose to thromboembolic disease. The current guidelines recommend the use of thromboprophylaxis in patients with COVID-19, however, the optimal heparin dosage treatment is not well-established. We conducted a multicentre, Italian, retrospective, observational study on COVID-19 patients admitted to ordinary wards, to describe clinical characteristic of patients at admission, bleeding and thrombotic events occurring during hospital stay. The strategies used for thromboprophylaxis and its role on patient outcome were, also, described. 1091 patients hospitalized were included in the START-COVID-19 Register. During hospital stay, 769 (70.7%) patients were treated with antithrombotic drugs: low molecular weight heparin (the great majority enoxaparin), fondaparinux, or unfractioned heparin. These patients were more frequently affected by comorbidities, such as hypertension, atrial fibrillation, previous thromboembolism, neurological disease,and cancer with respect to patients who did not receive thromboprophylaxis. During hospital stay, 1.2% patients had a major bleeding event. All patients were treated with antithrombotic drugs; 5.4%, had venous thromboembolism [30.5% deep vein thrombosis (DVT), 66.1% pulmonary embolism (PE), and 3.4% patients had DVT + PE]. In our cohort the mortality rate was 18.3%. Heparin use was independently associated with survival in patients aged ≥ 59 years at multivariable analysis. We confirmed the high mortality rate of COVID-19 in hospitalized patients in ordinary wards. Treatment with antithrombotic drugs is significantly associated with a reduction of mortality rates especially in patients older than 59 years